ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.1224+4167_1324del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000234864 SCV000292236 pathogenic Cystinuria 2015-09-21 criteria provided, single submitter clinical testing The deletion habroured by this patient is predicted to generate a truncated and non-functional SLC7A9 protein product, which is compatible with his condition.

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